Overview
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare genetic condition caused by changes (mutations) in the THOC6 gene. This gene plays an important role in how cells process and transport genetic instructions (called mRNA), which is essential for normal brain development and growth. The condition is also sometimes referred to as Beaulieu-Boycott-Innes syndrome (BBIS). Children born with this syndrome typically have a smaller-than-average head size (microcephaly), intellectual disability ranging from mild to severe, and distinctive facial features. These facial features may include a flat midface, a short nose, widely spaced eyes, and a thin upper lip. Many affected children also experience delays in reaching developmental milestones such as sitting, walking, and talking. Some individuals may have heart defects, kidney abnormalities, or other organ involvement. There is currently no cure for this condition. Treatment focuses on managing symptoms and supporting development. This includes early intervention programs, speech therapy, occupational therapy, physical therapy, and special education services. Heart or kidney problems, if present, are treated by the appropriate specialists. With supportive care, many individuals can make meaningful developmental progress, though most will need some level of lifelong support.
Also known as:
Key symptoms:
Smaller than average head size (microcephaly)Intellectual disabilityDelayed speech and language developmentDelayed motor milestones like sitting and walkingDistinctive facial features such as a flat midface and short noseWidely spaced eyesThin upper lipHeart defects present at birthKidney abnormalitiesShort stature or poor growthLow muscle tone in infancyFeeding difficulties in early lifeSeizures in some individualsBehavioral challengesVision problems
Clinical phenotype terms (44)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the specific genetic change found in my child's THOC6 gene, and what does it mean for their outlook?,Should my child have heart and kidney screening, and how often should these be repeated?,What early intervention therapies do you recommend, and how soon should we start?,Are there any clinical trials or research studies my child might be eligible for?,What should I watch for in terms of seizures, and what should I do if one occurs?,Should other family members be tested to see if they are carriers?,What resources or support groups are available for families affected by this condition?
Common questions about THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
What is THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome?
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare genetic condition caused by changes (mutations) in the THOC6 gene. This gene plays an important role in how cells process and transport genetic instructions (called mRNA), which is essential for normal brain development and growth. The condition is also sometimes referred to as Beaulieu-Boycott-Innes syndrome (BBIS). Children born with this syndrome typically have a smaller-than-average head size (microcephaly), intellectual disability ranging from mild to severe, and distinctive facial features. These facial
How is THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome inherited?
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome typically begin?
Typical onset of THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is neonatal. Age of onset can vary across affected individuals.